Dataset Information

Genome-wide analysis of cold adaptation in indigenous Siberian populations.

ABSTRACT: Following the dispersal out of Africa, where hominins evolved in warm environments for millions of years, our species has colonised different climate zones of the world, including high latitudes and cold environments. The extent to which human habitation in (sub-)Arctic regions has been enabled by cultural buffering, short-term acclimatization and genetic adaptations is not clearly understood. Present day indigenous populations of Siberia show a number of phenotypic features, such as increased basal metabolic rate, low serum lipid levels and increased blood pressure that have been attributed to adaptation to the extreme cold climate. In this study we introduce a dataset of 200 individuals from ten indigenous Siberian populations that were genotyped for 730,525 SNPs across the genome to identify genes and non-coding regions that have undergone unusually rapid allele frequency and long-range haplotype homozygosity change in the recent past. At least three distinct population clusters could be identified among the Siberians, each of which showed a number of unique signals of selection. A region on chromosome 11 (chr11:66-69 Mb) contained the largest amount of clustering of significant signals and also the strongest signals in all the different selection tests performed. We present a list of candidate cold adaption genes that showed significant signals of positive selection with our strongest signals associated with genes involved in energy regulation and metabolism (CPT1A, LRP5, THADA) and vascular smooth muscle contraction (PRKG1). By employing a new method that paints phased chromosome chunks by their ancestry we distinguish local Siberian-specific long-range haplotype signals from those introduced by admixture.

SUBMITTER: Cardona A

PROVIDER: S-EPMC4029955 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Genome-wide analysis of cold adaptation in indigenous Siberian populations.

Cardona Alexia A Pagani Luca L Antao Tiago T Lawson Daniel J DJ Eichstaedt Christina A CA Yngvadottir Bryndis B Shwe Ma Than Than MT Wee Joseph J Romero Irene Gallego IG Raj Srilakshmi S Metspalu Mait M Villems Richard R Willerslev Eske E Tyler-Smith Chris C Malyarchuk Boris A BA Derenko Miroslava V MV Kivisild Toomas T

PloS one 20140521 5

Following the dispersal out of Africa, where hominins evolved in warm environments for millions of years, our species has colonised different climate zones of the world, including high latitudes and cold environments. The extent to which human habitation in (sub-)Arctic regions has been enabled by cultural buffering, short-term acclimatization and genetic adaptations is not clearly understood. Present day indigenous populations of Siberia show a number of phenotypic features, such as increased b ...[more]

PMID: 24847810

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Dataset Information

Genome-wide analysis of cold adaptation in indigenous Siberian populations.

Publications

Genome-wide analysis of cold adaptation in indigenous Siberian populations.

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